title: DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood.
abstract: We report a 29 year old female with mild dysmorphic facial features, presenting with late onset symptomatic hypocalcaemia in adulthood. The presence of hypoparathyroidism in association with a history of transient neonatal hypocalcaemia and velopharyngeal incompetence during childhood, prompted chromosomal analysis for DiGeorge Syndrome. Fluorescence in situ hybridisation (FISH) analysis revealed a deletion of chromosome 22q11.2. This case is unusual in that the patient remained asymptomatic apart from speech and language delay after the first few months of life and presented in adulthood without any associated immunological, cardiac or renal abnormalities. The diagnosis has important implications for health and family planning.
authors.affiliation: Regional Centre for Diabetes and Endocrinology, Royal Victoria Hospital, Belfast, N. Ireland, BT12 6BA, United Kingdom.
authors.forename: Philip C
authors.initials: PC
authors.lastname: Johnston
authors.forename: Deirdre E
authors.initials: DE
authors.lastname: Donnelly
authors.forename: Deirdre K
authors.initials: DK
authors.lastname: Donnelly
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Morrison
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Hunter
mesh_terms: D000328:Adult; D017668:Age of Onset; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis / Q000209:etiology*; D017384:Sequence Deletion